Turnpenny-Fry syndrome
Definition:
Turnpenny-Fry syndrome (TPFS) is an extremely rare disease characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification, and chromatin remodeling via polycomb repressive complex 1 (PRC1).
References:
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[1]. Pelin Ercoskun, et al. A new case of Turnpenny-Fry syndrome. Am J Med Genet A. 2022 Feb;188(2):688-691. [Content Brief]
[2]. Peter D Turnpenny, et al. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 Nov 1;103(5):786-793. [Content Brief]
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